Research Project
Grant-in-Aid for Young Scientists (B)
In this study, we established iPSCs derived from patients with Nevoid basal cell carcinoma syndrome (NBCCS), and tried to generate disease models in order to perform drug screening for NBCCS and the syndrome-related tumors. NBCCS-iPSCs had characteristics of pluripotent stem cells. Growth and differentiation capabilities of iPSCs remained unaffected by mutations in the PTCH1 gene. Meanwhile, medulloblastoma was formed in all the teratomas generated from all NBCCS-iPSC clones established from 4 different patients. Sequencing analysis of the microdissected medulloblastoma specimen revealed a loss of heterozygosity of the PTCH1 gene. These results demonstrated that NBCCS-iPSCs can be a good model of NBCCS-derived medulloblastoma, and thereby used for drug screening to prevent or treat medulloblastomas. Further pathological and molecular analyses are expected to reveal the mechanisms for tumorigenesis of Hh-related tumors.
All 2017 2016 2015
All Journal Article (1 results) (of which Peer Reviewed: 1 results, Open Access: 1 results, Acknowledgement Compliant: 1 results) Presentation (3 results)
Journal of Medical Genetics
Volume: － Issue: 8 Pages: 579-584
10.1136/jmedgenet-2016-104490
